Neuropsychological speed tests and blood phenylalanine levels in patients with phenylketonuria: A meta-analysis

Neuroscience and Biobehavioral Reviews

Volumn 33, Issue 3, 2009, Pages 414-421

  Albrecht, Julia ^a   Garbade, Sven F ^a   Burgard, Peter ^a  

^a UNIVERSITY OF HEIDELBERG   (Germany)

Author keywords

Meta analysis; Neuropsychological speed test; Phenylalanine; Phenylketonuria; Treatment recommendations

Indexed keywords

PHENYLALANINE;

CONCENTRATION (PARAMETERS); DATA BASE; DATA EXTRACTION; DECISION MAKING; DIET; EFFECT SIZE; ENZYME BLOOD LEVEL; GROUPS BY AGE; HUMAN; MEDLINE; NEUROPSYCHOLOGICAL TEST; PATIENT CODING; PHENYLKETONURIA; PRIORITY JOURNAL; REACTION TIME; REVIEW; SENSORIMOTOR FUNCTION; STATISTICAL ANALYSIS; SYSTEMATIC REVIEW; TASK PERFORMANCE; TREATMENT INDICATION;

ADOLESCENT; ADULT; AGE FACTORS; CHILD; COMPUTERS; HUMANS; NEUROPSYCHOLOGICAL TESTS; PHENYLALANINE; PHENYLKETONURIAS; PRACTICE GUIDELINES AS TOPIC; PSYCHOMOTOR PERFORMANCE; YOUNG ADULT;

EID: 59349089192     PISSN: 01497634     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neubiorev.2008.11.001     Document Type: Review

References (96)

1. Abadie V., Berthelot J., Feillet F., Maurin N., Mercier A., Ogier de Baulny A., and de Parscau L. Consensus national sur la prise en charge des enfants dépistés avec une hyperphénylalaninémie. Arch. Pédiatr. 12 (2005) 594-601
2. Anderson P.J., Wood S.J., Francis D.E., Coleman L., Warwick L., Casanelia S., Anderson V.A., and Boneh A. Neuropsychological functioning in children with early-treated phenylketonuria: impact of white matter abnormalities. Dev. Med. Child Neurol. 46 (2004) 230-238
3. Anderson V.E., Siegel F.S., Fisch R.O., and Wirt R.D. Responses of phenylketonuric children on a continuous performance test. J. Abnorm. Psychol. 74 3 (1969) 358-362
4. Anderson V.E., Siegel F.S., Tellegen A., and Fisch R.O. Manual dexterity in phenylketonuric children. Percept. Mot. Skills 26 (1968) 827-834
5. Antshel K.M., and Waisbren S. Timing is everything: executive functions in children exposed to elevated levels of phenylalanine. Neuropsychology 17 3 (2003) 458-468
6. Bailar J., and Mosteller F. Guidelines for statistical reporting in articles for medical journals. Amplifications and explanations. Ann. Intern. Med. 108 2 (1988) 266-273
7. Beblo S., Reinhardt H., Demmelmair H., Muntau A.C., and Koletzko B. Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. J. Pediatr. 150 (2007) 479-484
8. Bekhof J., van Rijn M., Sauer P.J.J., Ten Vergert E.M., Reijngoud D.-J., and van Spronsen F.J. Plasma phenylalanine in patients with phenylketonuria self-managing their diet. Arch. Dis. Child. 90 (2005) 163-164
9. Brenton D.P., and Pietz J. Adult care in phenylketonuria and hyperphenylalaninaemia: the relevance of neurological abnormalities. Eur. J. Pediatr. 159 (2000) 114-120
10. Brumm V.L., Azen C., Moats R.A., Stern A.M., Broomand C., Nelson M.D., and Koch R. Neuropsychological outcome of subjects participating in the PKU adult collaborative study: a preliminary review. J. Inherit. Metab. Dis. 27 (2004) 549-566
11. Brunner R.L., Berch D.B., and Berry H. Phenylketonuria and complex spatial visualization: an analysis of information processing. Dev. Med. Child Neurol. 29 (1987) 460-468
12. Brunner R.L., and Berry H.K. Phenylketonuria and sustained attention: the continuous performance test. Int. J. Clin. Neuropsychol. 9 (1987) 68-70
13. Brunner R.L., Jordan M.K., and Berry H.K. Early-treated phenylketonuria: neuropsychologic consequences. J. Pediatr. 102 (1983) 831-835
14. Burgard P. Development of intelligence in early treated phenylketonuria. Eur. J. Pediatr. 159 Suppl. 2 (2000) 74-79
15. Burgard P., Bremer H.J., Bührdel P., Clemens P.C., Mönch E., Przyrembel H., Trefz F.K., and Ullrich K. Rationale for the german recommendations for phenylalanine level control in phenylketonuria 1997. Eur. J. Pediatr. 158 (1999) 46-54
16. Burgard P., Rey F., Rupp A., Abadie V., and Rey J. Neuropsychologic functions of early treated patients with phenylketonuria, on and off diet: results of a cross-national and cross-sectional study. Pediatr. Res. 41 (1997) 368-374
17. Channon S., Goodman G., Zlotowitz S., Mockler C., and Lee P.J. Effects of dietary management of phenylketonuria on long-term cognitive outcome. Arch. Dis. Child. 92 (2007) 213-218
18. Channon S., Mockler C., and Lee P. Executive functioning and speed of processing in phenylketonuria. Neuropsychology 19 5 (2005) 679-686
19. Christ S.E., Steiner R.D., Grange D.K., Abrams R.A., and White D.A. Inhibitory control in children with phenylketonuria. Dev. Neuropsychol. 30 (2006) 845-864
20. Cooper H., and Hedges L.V. Research synthesis as a scientific enterprise. In: Cooper H., and Hedges L.V. (Eds). The Handbook of Research Synthesis (1994), Russel Sage Foundation, New York 3-14
21. Clarke J.T.R., Gates R.D., Hogan S.E., Barrett M., and MacDonald G.W. Neuropsychological studies on adolescents with phenylketonuria returned to phenylalanine-restricted diets. Am. J. Ment. Retard. 92 3 (1987) 255-262
22. Craft S., Gourovitch M.L., Dowtown S.B., Swanson J.M., and Bonforte S. Lateralized deficits in visual attention in males with developmental dopamine depletion. Neuropsychologia 30 4 (1992) 341-351
23. De Sonneville L.M.J., Schmidt E., Michel U., and Batzler U. Preliminary neuropsychological test results. Eur. J. Pediatr. 149 Suppl. 1 (1990) 39-44
24. Diamond A., Prevor M.B., Callender G., and Druin D.P. Prefrontal cortex cognitive deficits in children treated early and continuously for PKU. Monogr. Soc. Res. Child Dev. 62 4 (1997) i-v, 1-2008
25. Faust D., Libon D., and Pueschel S. Neuropsychological functioning in treated phenylketonuria. Int. J. Psychiatr. Med. 16 (1986) 169-177
26. Feldmann R., Denecke J., Grenzebach M., and Weglage J. Frontal lobe-dependent functions in treated phenylketonuria: blood phenylalanine concentrations and long-term deficits in adolescents and young adults. J. Inherit. Metab. Dis. 28 (2005) 445-455
27. Feldmann R., Denecke J., Pietsch M., Grenzebach M., and Weglage J. Phenylketonuria: no specific frontal lobe-dependent neuropsychological deficits of early-treated patients in comparison with diabetics. Pediatr. Res. 51 (2002) 761-765
28. Gassió R., Artuch R., Vilaseca M.A., Fusté E., Boix C., Sana A., and Campistol J. Cognitive functions in classic phenylketonuria and mild hyperphenylalaninaemia: experience in a paediatric population. Dev. Med. Child Neurol. 47 7 (2005) 443-448
29. Gassió R., Fusté E., López-Sala A., Artuch R., Vilaseca M.A., and Campistol J. School performance in early and continuously treated phenylketonuria. Pediatr. Neurol. 33 4 (2005) 267-271
30. Gourovitch M.L., Craft S., Dowton S.B., Ambrose P., and Sparta S. Interhemispheric transfer in children with early-treated phenylketonuria. J. Clin. Exp. Neuropsychol. 16 3 (1994) 393-404
31. Griffiths P., Campbell R., and Robinson P. Executive function in treated phenylketonuria as measured by the one-back and two-back versions of the continuous performance test. J. Inherit. Metab. Dis. 21 (1998) 125-135
32. Griffiths P., Paterson L., and Harvie A. Neuropsychological effects of subsequent exposure to phenylalanine in adolescents and young adults with early-treated phenylketonuria. J. Intellect. Disabil. Res. 39 5 (1995) 365-372
33. Griffiths P., Robinson P., Davies R., Hayward K., Lewis K., Livingstone K., and Plews S. Speed of decision-making and set-switching: subtle executive deficits in children with treated phenylketonuria. Educ. Child Psychol. 22 2 (2005) 81-89
34. Griffiths P., Tarrini M., and Robinson P. Executive function and psychosocial adjustment in children with early treated phenylketonuria: correlation with historical and concurrent phenylalanine levels. J. Intellect. Disabil. Res. 41 4 (1997) 317-323
35. Griffiths P., Ward N., Harvie A., and Cockburn F. Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria. J. Inherit. Metab. Dis. 21 (1998) 29-38
36. Hedges L.V. Fixed effects models. In: Cooper H., and Hedges L.V. (Eds). The Handbook of Research Synthesis (1994), Russel Sage Foundation, New York 285-299
37. Hedges L.V., and Olkin I. Statistical Methods for Meta-analysis (1985), Academic Press, Orlando
38. Henderson R.M., McCulloch D.L., Herbert A.M., Robinson P.H., and Taylor M.J. Visual event-related potentials in children with phenylketonuria. Acta Paediatr. 89 (2000) 52-57
39. Huijbregts S., de Sonneville L., Licht R., Sergeant J., and van Spronsen F. Inhibition of prepotent responding and attentional flexibility in treated phenylketonuria. Dev. Neuropsychol. 22 2 (2002) 481-499
40. Huijbregts S.C.J., de Sonneville L.M.J., Licht R., van Spronsen F.J., and Sergeant J.A. Short-term dietary interventions in children and adolescents with treated phenylketonuria: effects on neuropsychological outcome of a well-controlled population. J. Inherit. Metab. Dis. 25 (2002) 419-430
41. Huijbregts S.C.J., de Sonneville L.M.J., Licht R., van Spronsen F.J., Verkerk P.H., and Sergeant J.A. Sustained attention and inhibition of cognitive interference in treated phenylketonuria: association with concurrent and lifetime phenylalanine concentrations. Neuropsychologia 40 (2002) 7-15
42. Huijbregts S.C.J., de Sonneville L.M.J., van Spronsen F.J., Berends I.E., Licht R., Verkerk P., and Segeant J.A. Motor function under lower and higher controlled processing demands in early and continuously treated phenylketonuria. Neuropsychology 17 3 (2003) 369-379
43. Huijbregts S.C.J., de Sonneville L.M.J., van Spronsen F.J., Licht R., and Sergeant J.A. The neuropsychological profile of early and continuously treated phenylketonuria: orienting, vigilance, and maintenance versus manipulation-functions of working memory. Neurosci. Biobehav. Rev. 26 (2002) 697-712
44. Huttenlocher P.R. The neuropathology of phenylketonuria: human and animal studies. Eur. J. Pediatr. 159 (2000) S102-S106
45. Koch R., Hanley W., Levy H., Matalon K., Matalon R., Rouse B., Trefz F., Güttler F., Azen C., Platt L., Waisbren S., Widaman K., Ning J., Friedman E., and de la Cruz F. The maternal phenylketonuria international study: 1984-2002. Pediatrics 112 (2003) 1523-1530
46. Krause W., Halminski M., McDonald L., Dembure P., Salvo R., Freides D., and Elsas L. Biochemical and neuropsychological effects of elevated plasma phenylalanine in patients with treated phenylketonuria. a model for the study of phenylalanine and brain function in man. J. Clin. Invest. 75 (1985) 40-48
47. Lau J., Ioannidis J.P.A., Terrin N., Schmid C.H., and Olkin I. The case of the misleading funnel plot. BMJ 333 (2006) 597-600
48. Lou H.C., G̈uttler F., Lykkelund C., Bruhn P., and Niederwieser A. Decreased vigilance and neurotransmitter synthesis after discontinuation of dietary treatment for phenylketonuria in adolescents. Eur. J. Pediatr. 144 (1985) 17-20
49. Lou H.C., Lykkelund C., Gerdes A.M., Udesen H., and Bruhn P. Increased vigilance and dopamine synthesis by large doses of tyrosine or phenylalanine restriction in phenylketonuria. Acta Paediatr. Scand. 76 (1987) 560-565
50. Luciana M., Hanson K.L., and Whitley C.B. A preliminary report on dopamine system reactivity in PKU: acute effects of haloperidol on neuropsychological, physiological, and neuroendocrine functions. Psychopharmacology 175 (2004) 18-25
51. Luciana M., Sullivan J., and Nelson C.A. Associations between phenylalanine-to-tyrosine ratios and performance on tests of neuropsychological function in adolescents treated early and continuously for phenylketonuria. Child Dev. 72 (2001) 1637-1652
52. Lykkelund C., Nielsen J.B., Lou H.C., Rasmussen V., Gerdes A.M., Christensen E., and Güttler R. Increased neurotransmitter biosynthesis in phenylketonuria induced by phenylalanine restriction or by supplementation of unrestricted diet with large amounts of tyrosine. Eur. J. Pediatr. 148 (1988) 238-245
53. Mazzocco M.M., Nord A.M., van Doorninck W., Greene C.L., Kovar C.G., and Pennington B.F. Cognitive development among children with early-treated phenylketonuria. Dev. Neuropsychol. 10 2 (1994) 133-151
54. Mazzocco M.M., Pennington B.F., Nord A.M., Yannicelli S., van Doorninck W., Greene C., and Davidson A.J. The neuropsychology of early treated pku in children from 6 to 13 years of age. Proceedings of the Vth International Congress of Inborn Errors of Metabolism. Pacific Grove, CA, USA (1990)
55. Medical Research Council Working Party on Phenylketonuria. Recommendations on the dietary management of phenylketonuria. Arch. Dis. Child. 68 (1993) 426-427
56. Moyle J.J., Fox A.M., Arthur M., Bynevelt M., and Burnett J.R. Meta-analysis of neuropsychological symptoms of adolescents and adults with PKU. Neuropsychol. Rev. 17 (2007) 91-101
57. Moyle J.J., Fox A.M., Bynevelt M., Arthur M., and Burnett J.R. Event-related potentials elicited during a visual Go-Nogo task in adults with phenylketonuria. Clin. Neurophysiol. 117 (2006) 2154-2160
58. Moyle J.J., Fox A.M., Bynevelt M., Arthur M., and Burnett J.R. A neuropsychological profile of off-diet adults with phenylketonuria. J. Clin. Exp. Neuropsychol. 29 (2007) 436-441
59. National Institutes of Health Consensus Development Panel. National institutes of health consensus development conference statement: phenylketonuria: screening and management. Pediatrics 108 October 16-18, 2000 (2001) 972-982
60. Pennington B.F., van Doorninck W.J., McCabe L.L., and McCabe E.R.B. Neuropsychological deficits in early treated phenylketonuric children. Am. J. Ment. Defic. 89 5 (1985) 467-474
61. Pietz J., Dunckelmann R., Rupp A., Rating D., Meinck H.-M., Schmidt H., and Bremer H.J. Neurological outcome in adult patients with early-treated phenylketonuria. Eur. J. Pediatr. 157 (1998) 824-830
62. Pietz J., Kreis R., Boesch C., Penzien J., Rating D., and Herschkowitz N. The dynamics of brain concentrations of phenylalanine and its clinical significance in patients with phenylketonuria determined by in vivo h magnetic resonance spectroscopy. Pediatr. Res. 38 (1995) 657-663
63. Pietz J., Kreis R., Schmidt H., Meyding-Lamade U.K., Rupp A., and Boesch C. Phenylketonuria: findings at MR imaging and localized in vivo H-1MR spectroscopy of the brain in patients with early treatment. Radiology 201 (1996) 413-420
64. Pietz J., Landwehr R., Kutscha A., Schmidt H., de Sonneville L., and Trefz F.K. Effect of high-dose tyrosine supplementation on brain function in adults with phenylketonuria. J. Pediatr. 127 6 (1995) 936-943
65. Pietz J., Schmidt E., Matthis P., Kobialka B., Kutscha A., and de Sonneville L. EEGs in phenylketonuria. I. Follow-up to adulthood. II. Short-term diet-related changes in EEGs and cognitive function. Dev. Med. Child Neurol. 35 (1993) 54-64
66. Pinheiro J.C., and Bates D.M. Mixed-effects Models in S and S-PLUS (2000), Springer, New York
67. R Development Core Team, 2008. R: A Language and Environment for Statistical Computing. R Foundation for Statistical Computing, Vienna, Austria. ISBN 3-900051-07-0.
68. Raudenbush S.W. Random effect models. In: Cooper H., and Hedges L.V. (Eds). The Handbook of Research Synthesis (1994), Russel Sage Foundation, New York 301-321
69. Realmuto G.M., Garfinkel B.D., Tuchman M., Tsai M.Y., Chang P.-N., Fisch R.O., and Shapiro S. Psychiatric diagnosis and behavioral characteristics of pheylketonuric children. J. Nerv. Ment. Dis. 174 (1986) 536-540
70. Ris M.D., Williams S.E., Hunt M.M., Berry H.K., and Leslie N. Early-treated phenylketonuria: adult neuropsychologic outcome. J. Pediatr. 124 3 (1994) 388-392
71. Rosenthal R. Parametric measures of effect size. In: Cooper H., and Hedges L.V. (Eds). The Handbook of Research Synthesis (1994), Russel Sage Foundation, New York 231-244
72. Schmidt, E., 1994. Der Einfluß des aktuellen Phenylalanin-Blutspiegels bei frühbehandelten erwachsenen Phenylketonuriepatienten auf die Informationsverarbeitung. PhD thesis, Ruprecht Karls University of Heidelberg.
73. Schmidt E., Burgard P., and Rupp A. Effects of concurrent phenylalanine levels on sustained attention and calculation speed in patients treated early for phenylketonuria. Eur. J. Pediatr. 155 Suppl. 1 (1996) 82-86
74. Schmidt E., Rupp A., Burgard P., Pietz J., Weglage J., and de Sonneville L. Sustained attention in adult phenylketonuria: the influence of the concurrent phenylalanine-blood-level. J. Clin. Exp. Neuropsychol. 16 5 (1994) 681-688
75. Scriver C.R. The PAH gene, phenylketonuria, and a paradigm shift. Hum. Mutat. 28 9 (2007) 831-845
76. Scriver C.R., and Kaufman S. Hyperphenylalaninemia: phenylalanine hydroxylase deficiency. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 1667-1724
77. Seashore M.R., Friedman E., Novelly R.A., and Bapat V. Loss of intellectual function in children with phenylketonuria after relaxation of dietary phenylalanine restriction. Pediatrics 75 (1985) 226-232
78. Smith M.L., Hanley W.B., Clarke J.T.R., Klim P., Schoonheyt W., Austin V., and Lehotay D.C. Randomised controlled trial of tyrosine supplementation on neuropsychological performance in phenylketonuria. Arch. Dis. Child. 78 (1998) 116-121
79. Stemerdink B.A., van der Meere J.J., van der Molen M.W., Kalverboer A.F., Hendrikx M.M.T., Huisman J., van der Schot L.W.A., Slijper F.M.E., van Spronsen F.J., and Verkerk P.H. Information processing in patients with early and continuously-treated phenylketonuria. Eur. J. Pediatr. 154 (1995) 739-746
80. Stemerdink, N., 1996. Early and continuously treated phenylketonuria. An experimental neuropsychological approach. PhD thesis, University of Amsterdam.
81. Stemerdink N.B.A., van der Molen M.W., Kalverboer A.F., van der Meere J.J., Huisman J., de Jong L.W., Slijper F.M.E., Verkerk P.H., and van Spronsen F.J. Prefrontal dysfunction in early and continuously treated phenylketonuria. Dev. Neuropsychol. 16 (1999) 29-57
82. Thompson S.G., and Sharp S.J. Explaining heterogeneity in meta-analysis: a comparison of methods. Stat. Med. 18 20 (1999) 2693-2708
83. Ullrich K., Weglage J., Oberwittler C., Pietsch M., F̈unders B., van Eckhardstein H., and Colombo J.P. Effect of L-DOPA on pattern visual evoked potentials (P-100) and neuropsychological tests in untreated adult patients with phenylketonuria. J. Inherit. Metab. Dis. 17 (1994) 349-352
84. Ullrich K., Weglage J., Oberwittler C., Pietsch M., Fünders B., von Eckardstein H., and Colombo J.P. Effect of L-dopa on visual evoked potentials and neuropsychological tests in adult phenylketonuria patients. Eur. J. Pediatr. 155 Suppl. 1 (1996) 74-77
85. Viechtbauer, S., 2006. MiMa: an S-Plus/R function to fit meta-analytic mixed-, random-, and fixed-effects models. Accessed September 10, 2007.
86. Waisbren S.E., Brown M.J., de Sonneville L.M.J., and Levy H.L. Review of neuropsychological functioning in treated phenylketonuria: an information processing approach. Acta Paediatr. 83 Suppl. 407 (1994) 98-103
87. Waisbren S.E., Noel K., Fahrbach K., Cella C., Frame D., Dorenbaum A., and Levy H. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol. Genet. Metab. 92 1-2 (2007) 63-70
88. Walter J.H., White F.J., Hall S.K., MacDonald A., Rylance G., Boneh A., Francis D.E., Shortland G.J., Schmidt M., and Vail A. How practical are recommendations for dietary control in phenylketonuria?. Lancet 360 (2002) 55-57
89. Wässer S., Ettrich K.U., Schmidt K.D., Selle D., and Theile H. Fallstudien zum Einfluß von Tyrosingaben bei phenylketonurischen Kindern auf kognitive Prozesse. Klin. Pädiatr. 204 (1992) 417-421
90. Wastfelt M., Fadeel B., and Henter J.I. A journey of hope: lessons learned from studies on rare diseases and orphan drugs. J. Intern. Med. 260 (2006) 1-10
91. Weglage J., Pietsch M., Denecke J., Sprinz A., Feldmann R., Grenzebach M., and Ullrich K. Regression of neuropsychological deficits in early-treated phenylketonurics during adolescence. J. Inherit. Metab. Dis. 22 (1999) 693-705
92. Weglage J., Pietsch M., Fünders B., Koch H.G., and Ullrich K. Neurological findings in early treated phenylketonuria. Acta Paediatr. 84 (1995) 411-415
93. Weglage J., Pietsch M., Fünders B., Koch H.G., and Ullrich K. Deficits in selective and sustained attention processes in early treated children with phenylketonuria-result of impaired frontal lobe functions?. Eur. J. Pediatr. 155 (1996) 200-204
94. Welsh M.C., Pennington B.F., Ozonoff S., Rouse B., and McCabe E.R.B. Neuropsychology of early-treated phenylketonuria: specific executive function deficits. Child Dev. 61 (1990) 1697-1713
95. White D.A., Nortz M.J., Mandernach T., Huntington K., and Steiner R.D. Deficits in memory strategy use related to prefrontal dysfunction during early development: evidence from children with phenylketonuria. Neuropsychology 15 2 (2001) 221-229
96. Wiersema J.R., van der Meere J.J., and Roeyers H. State regulation and response inhibition in children with ADHD and children with early- and continuously treated phenylketonuria: an event-related potential comparison. J. Inherit. Metab. Dis. 28 (2005) 831-843